R32H (p.Arg32His) variant of GJB2 (Gap junction beta-2 protein)
R32H (p.Arg32His) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic hearing loss; GJB2-related disorder; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs111033190
- ClinGen CA261654
- ClinVar RCV000037873
- ClinVar RCV000410025
- Pathogenic
- Monogenic hearing loss; GJB2-related disorder; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic hearing loss; GJB2-related disorder; Rare genetic deaf)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: GJB2 mutations: passage through Iran. (PMID 15666300)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)